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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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46,XX testicular difference of sex development
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Orphanet_393 |
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Classic Hodgkin disease
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Orphanet_391 |
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Refractory celiac disease
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Orphanet_398063 |
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SURF1-related Charcot-Marie-Tooth disease type 4
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Orphanet_391351 |
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Rare hereditary disease with avascular necrosis
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Orphanet_399185 |
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46,XX testicular disorder of sex development
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Orphanet_393 |
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KLHL9-related early-onset distal myopathy
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Orphanet_399081 |
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Nebulin-related early-onset distal myopathy
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Orphanet_399103 |
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Combined immunodeficiency due to MALT1 deficiency
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Orphanet_397964 |
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Silver-Russell syndrome due to a point mutation
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Orphanet_397590 |
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Male infertility due to asthenozoospermia
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Orphanet_399813 |
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Male infertility due to gonadal dysgenesis or sperm disorder
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Orphanet_399764 |
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Rare disorder due to impaired sperm transport
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Orphanet_399824 |
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Male infertility due to sperm disorder
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Orphanet_399771 |
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Male infertility due to sperm motility disorder
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Orphanet_399813 |
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