OMIM Find_IDs Find_Terms Annotation
manager
language -
license -
created at 2024-09-23 05:55:30 UTC
updated at 2024-09-23 18:21:54 UTC
The OMIM entries, compiled in the following way.
1. The original entries were downloaded from BioPortal, on Sep. 23, 2024.
2. Only the original OMIM entries were extracted, which excluded the STY and MTHU entries.
Namespace for Semantic Web: http://purl.bioontology.org/ontology/OMIM/
Namespace for the OMIM web pages: https://www.omim.org/entry/
116,330 entries
Label
Id
BDS 105650
DBA 105650
DBA1 105650
AASE SYNDROME 105650
BLACKFAN-DIAMOND SYNDROME 105650
ERYTHROGENESIS IMPERFECTA 105650
ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC 105650
AREGENERATIVE ANEMIA, CHRONIC CONGENITAL 105650
ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND 105650
AASE-SMITH SYNDROME II 105650
DIAMOND-BLACKFAN ANEMIA 1 105650
RED CELL APLASIA, PURE, HEREDITARY 105650