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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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Trisomy 10 mosaicism
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Orphanet_96063 |
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Trisomy 22 mosaicism
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Orphanet_96068 |
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46,XY disorder of sex developement due to partial LH resistance
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Orphanet_96266 |
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46,XY disorder of sex development due to complete LH resistance
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Orphanet_96265 |
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Congenital absence of vagina
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Orphanet_96269 |
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Rare gynecologic or obstetric disease
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Orphanet_96344 |
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X small rings
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Orphanet_96201 |
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4p16.3 microduplication syndrome
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Orphanet_96072 |
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16p13.3 microduplication syndrome
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Orphanet_96078 |
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3q26 microduplication syndrome
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Orphanet_96095 |
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7q11.23 microduplication syndrome
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Orphanet_96121 |
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6p25 microdeletion syndrome
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Orphanet_96125 |
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Recombinant 8 syndrome
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Orphanet_96167 |
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Koolen-De Vries syndrome
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Orphanet_96169 |
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Supernumerary der(22) syndrome
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Orphanet_96170 |
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