ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1 Orphanet_589534
MPAL with t(v;11q23.3); KMT2A rearranged Orphanet_589595
MPAL with t(v;11q23.3); MLL rearranged Orphanet_589595
Spinocerebellar ataxia type 45 Orphanet_589527
Spinocerebellar ataxia type 46 Orphanet_589522
Isolated splenic vein thrombosis Orphanet_583856
Isolated mesenteric vein thrombosis Orphanet_583861
Myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet_589542
B-lymphoblastic leukemia/lymphoma with hyperdiploidy Orphanet_585936
B-lymphoblastic leukemia/lymphoma with hypodiploidy Orphanet_585942
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) Orphanet_585929
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet_585956
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) Orphanet_585948
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) Orphanet_585909
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) Orphanet_585918