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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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CMT2 with giant axons
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Orphanet_401964 |
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HMSN2 with giant axons
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Orphanet_401964 |
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Trilineage bone marrow failure-developmental delay syndrome
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Orphanet_401764 |
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Karyomegalic interstitial nephritis
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Orphanet_401996 |
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Autosomal spastic paraplegia type 72
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Orphanet_401849 |
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Huntington disease phenocopy due to C9ORF72 expansions
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Orphanet_401901 |
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Autosomal recessive spastic paraplegia type 59
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Orphanet_401795 |
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Autosomal recessive spastic paraplegia type 60
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Orphanet_401800 |
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Autosomal recessive spastic paraplegia type 61
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Orphanet_401780 |
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Autosomal recessive spastic paraplegia type 62
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Orphanet_401785 |
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Autosomal recessive spastic paraplegia type 63
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Orphanet_401805 |
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Autosomal recessive spastic paraplegia type 64
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Orphanet_401810 |
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Autosomal recessive spastic paraplegia type 66
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Orphanet_401815 |
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Autosomal recessive spastic paraplegia type 67
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Orphanet_401820 |
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Autosomal recessive spastic paraplegia type 69
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Orphanet_401830 |
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