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
MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS 155100
BLEEDING DISORDER, PLATELET-TYPE, 6 155100
MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS 155100
GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA 155100
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS 155100
SEBASTIAN PLATELET SYNDROME 155100
ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY 155100