ORDO Find_IDs Find_Terms Annotation
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created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
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/
20,514 entries
Label
Id
Syndrome with 46,XX difference of sex development Orphanet_325109
Syndrome with 46,XX disorder of sex development Orphanet_325109
Syndactyly type 7 Orphanet_3258
46,XY ovotesticular DSD Orphanet_325345
Sex chromosome DSD Orphanet_325546
Genetic 46,XX DSD Orphanet_325697
Genetic 46,XY DSD Orphanet_325706
Genetic 46,XY DSD of endocrine origin Orphanet_325713
Syndrome with DSD of gynecological interest Orphanet_325638
Congenital factor II deficiency Orphanet_325
46,XY ovotesticular difference of sex development Orphanet_325345
Sex chromosome difference of sex development Orphanet_325546
Genetic 46,XX difference of sex development Orphanet_325697
Genetic 46,XY difference of sex development Orphanet_325706
Genetic 46,XY difference of sex development of endocrine origin Orphanet_325713