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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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MNGIE
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Orphanet_298 |
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Acrootoocular syndrome
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Orphanet_2980 |
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46,XX DSD
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Orphanet_2982 |
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Shapiro syndrome
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Orphanet_29822 |
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Verloes-Gillerot-Fryns syndrome
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Orphanet_2983 |
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Hal-Berg-Rudolph syndrome
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Orphanet_2985 |
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Pseudoprogeria syndrome
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Orphanet_2985 |
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Khalifa-Graham syndrome
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Orphanet_2988 |
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Absent eyebrows and eyelashes-intellectual disability syndrome
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Orphanet_2985 |
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Mitochondrial neurogastrointestinal encephalomyopathy
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Orphanet_298 |
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Episodic spontaneous hypothermia
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Orphanet_29822 |
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Spontaneous periodic hypothermia
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Orphanet_29822 |
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46,XX difference of sex development
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Orphanet_2982 |
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46,XX disorder of sex development
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Orphanet_2982 |
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Familial pterygium of the conjunctiva
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Orphanet_2989 |
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