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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 motor and sensory neuropathy type 3
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Orphanet_64748 |
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Hereditary motor and sensory neuropathy type 5
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Orphanet_64751 |
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Hereditary motor and sensory neuropathy type III
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Orphanet_64748 |
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Hereditary motor and sensory neuropathy type V
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Orphanet_64751 |
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Mandibuloacral dysplasia associated to MTX2
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Orphanet_647667 |
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Autosomal dominant axonal Charcot-Marie-Tooth disease
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Orphanet_64746 |
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ERF-related syndromic craniosynostosis
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Orphanet_647681 |
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Autosomal recessive demyelinating Charcot-Marie-Tooth
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Orphanet_64749 |
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IgG4-related thyroid disease
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Orphanet_64744 |
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X-linked Charcot-Marie-Tooth disease
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Orphanet_64747 |
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DHX30-related neurodevelopmental disorder
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Orphanet_647788 |
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Combined immunodeficiency due to FCHO1 deficiency
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Orphanet_647804 |
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Multiple epiphyseal dysplasia type 7
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Orphanet_647676 |
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Pigmented hairy epidermal naevus
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Orphanet_64755 |
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Pigmentary hairy epidermal nevus
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Orphanet_64755 |
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