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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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Primary growth hormone resistance
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Orphanet_633 |
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Invasive scopulariopsis infection
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Orphanet_633124 |
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Primary GH insensitivity
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Orphanet_633 |
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Alport hearing loss-nephropathy
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Orphanet_63 |
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Split cord malformation type 1.5
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Orphanet_633076 |
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Split cord malformation, composite type
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Orphanet_633076 |
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Split cord malformation, intermediate type
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Orphanet_633076 |
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Split cord malformation, mixed type
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Orphanet_633076 |
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Autosomal dominant myosin storage myopathy
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Orphanet_636965 |
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Autosomal recessive myosin storage myopathy
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Orphanet_636970 |
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Isolated optic nerve aplasia
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Orphanet_637064 |
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Isolated optic nerve hypoplasia
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Orphanet_637061 |
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Patterned dystrophy of the retinal pigment epithelium
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Orphanet_63454 |
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Metastases without primary tumor
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Orphanet_631251 |
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Isolated congenital proximal femoral deficiency
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Orphanet_633228 |
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