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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.
Complete hydatidiform mole
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Orphanet_254688 |
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Incomplete hydatidiform mole
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Orphanet_254693 |
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Partial hydatidiform mole
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Orphanet_254693 |
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EBS with muscular dystrophy
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Orphanet_257 |
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Merosin-negative congenital muscular dystrophy
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Orphanet_258 |
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Plectin-related limb-girdle muscular dystrophy R17
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Orphanet_254361 |
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Maternally-inherited mitochondrial myopathy
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Orphanet_254788 |
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mtDNA-related mitochondrial myopathy
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Orphanet_254788 |
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Pure mitochondrial myopathy
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Orphanet_254854 |
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Tubular aggregate myopathy
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Orphanet_2593 |
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Benign peripheral nerve sheath tumor
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Orphanet_252131 |
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Melanoma and neural system tumor syndrome
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Orphanet_252206 |
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Atypical papilloma of choroid plexus
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Orphanet_251902 |
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Rare tumor of cranial and spinal nerves
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Orphanet_252057 |
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Malignant melanoma of meninges
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Orphanet_252050 |
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