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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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Mild peroxisomal disorder due to PEX16 deficiency
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Orphanet_642954 |
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Mild peroxisomal disorder due to PEX2 deficiency
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Orphanet_642965 |
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Myelic limited dorsal malformation
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Orphanet_645378 |
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Non-saccular limited dorsal myeloschisis
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Orphanet_645343 |
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Saccular limited dorsal myeloschisis
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Orphanet_645354 |
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Combined immunodeficiency due to FCHO1 deficiency
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Orphanet_647804 |
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Hao-Fountain syndrome due to USP7 mutation
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Orphanet_643538 |
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Multiple epiphyseal dysplasia type 7
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Orphanet_647676 |
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Closed spinal dysraphism
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Orphanet_645202 |
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Open spinal dysraphism with a posterior meningocele
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Orphanet_645270 |
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Saccular spinal dysraphism with a stalk to the dome
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Orphanet_645319 |
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HPDL-related Leigh-like encephalopathy
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Orphanet_641353 |
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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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Pigmented hairy epidermal nevus
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Orphanet_64755 |
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