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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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Growth hormone receptor deficiency
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Orphanet_633 |
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Primary GH resistance
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Orphanet_633 |
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Mosaic NF2-related schwannomatosis
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Orphanet_634475 |
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Full NF2-related schwannomatosis
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Orphanet_637 |
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Nonmosaic NF2-related schwannomatosis
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Orphanet_637 |
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Autosomal dominant spastic paraplegia type 80
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Orphanet_631068 |
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Autosomal recessive spastic paraplegia type 82
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Orphanet_631073 |
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Autosomal recessive spastic paraplegia type 83
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Orphanet_631076 |
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Autosomal recessive spastic paraplegia type 84
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Orphanet_631079 |
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Autosomal recessive spastic paraplegia type 85
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Orphanet_631082 |
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Autosomal recessive spastic paraplegia type 86
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Orphanet_631085 |
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Autosomal recessive spastic paraplegia type 87
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Orphanet_631088 |
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CPE-related Prader-Willi-like syndrome
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Orphanet_633028 |
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Bamboo hair syndrome
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Orphanet_634 |
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Mosaic Legius syndrome
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Orphanet_634511 |
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