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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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Mitochondrial DNA deletion syndrome with limb-girdle weakness
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Orphanet_352470 |
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Mitochondrial DNA deletion syndrome with progressive myopathy
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Orphanet_352470 |
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X-linked Charcot-Marie-Tooth disease type 6
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Orphanet_352675 |
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Autism spectrum disorder due to AUTS2 deficiency
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Orphanet_352490 |
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Progressive retinal dystrophy due to retinol transport defect
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Orphanet_352718 |
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Limb-girdle muscular dystrophy type 2U
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Orphanet_352479 |
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Progressive myoclonic epilepsy with dystonia
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Orphanet_352596 |
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Progressive myoclonus epilepsy with dystonia
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Orphanet_352596 |
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ELOVL4-related neuro ichthyosis
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Orphanet_352333 |
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Hereditary benign intraepithelial dyskeratosis
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Orphanet_352657 |
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Autosomal recessive limb-girdle muscular dystrophy type 2U
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Orphanet_352479 |
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Mitochondrial DNA maintenance syndrome
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Orphanet_352456 |
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Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
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Orphanet_352447 |
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Disorder of melanin metabolism
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Orphanet_352728 |
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ISPD-related limb-girdle muscular dystrophy R20
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Orphanet_352479 |
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