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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,XY DSD due to partial LH resistance
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Orphanet_96266 |
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46,XY DSD due to partial luteinizing hormone resistance
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Orphanet_96266 |
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8p inverted duplication/deletion syndrome
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Orphanet_96092 |
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Inverted 8p duplication/deletion syndrome
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Orphanet_96092 |
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Rare genetic hearing loss
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Orphanet_96210 |
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Leydig cell hypoplasia due to complete LH receptor inactivation
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Orphanet_96265 |
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Leydig cell hypoplasia due to complete LH resistance
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Orphanet_96265 |
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Leydig cell hypoplasia due to partial LH receptor inactivation
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Orphanet_96266 |
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Leydig cell hypoplasia due to partial LH resistance
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Orphanet_96266 |
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Ataxia with isolated vitamin E deficiency
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Orphanet_96 |
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Rare otorhinolaryngological malformation
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Orphanet_96333 |
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Pituitary corticotroph micro-adenoma
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Orphanet_96253 |
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Trisomy 4 mosaicism
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Orphanet_96059 |
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Trisomy 5 mosaicism
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Orphanet_96060 |
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Trisomy 8 mosaicism
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Orphanet_96061 |
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