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
AIHA Orphanet_98375
ETRS Orphanet_983
FPLD Orphanet_98306
Laminopathy Orphanet_98301
Rare constitutional hemolytic anemia due to an enzyme disorder Orphanet_98369
Genetic lipodystrophy Orphanet_98305
Acquired lipodystrophy Orphanet_98307
Hereditary stomatocytosis Orphanet_98365
Hereditary stomatocytic disease Orphanet_98365
Hemolytic anemia due to a disorder of glycolytic enzymes Orphanet_98372
Hemolytic anemia due to an erythroenzymopathy Orphanet_98374
Male infertility due to gonadal dysgenesis Orphanet_98313
Male infertility due to impaired sperm transport Orphanet_98343
Constitutional anemia due to iron metabolism disorder Orphanet_98360
Male infertility due to obstructive azoospermia Orphanet_98343