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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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Phyllodes tumor of the prostate
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Orphanet_498228 |
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Congenital absence of the scrotum
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Orphanet_495879 |
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Congenital agenesis of the scrotum
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Orphanet_495879 |
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Genetic inflammatory or rheumatoid-like osteoarthropathy
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Orphanet_498445 |
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LRP5-related primary osteoporosis
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Orphanet_498481 |
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C12ORF65-related combined oxidative phosphorylation defect
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Orphanet_497623 |
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Progressive diffuse palmoplantar keratoderma
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Orphanet_495 |
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Transient reactive papulotranslucent acrokeratoderma
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Orphanet_498359 |
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Idiopathic optic perineuritis
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Orphanet_499107 |
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Menstrual cycle-dependent periodic fever
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Orphanet_498251 |
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Mutilating keratoderma plus deafness
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Orphanet_494 |
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Mutilating keratoderma plus hearing loss
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Orphanet_494 |
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Non-syndromic preaxial polydactyly
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Orphanet_498464 |
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Non-syndromic postaxial polydactyly
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Orphanet_498467 |
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Non-syndromic complex polydactyly
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Orphanet_498470 |
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