OMIM Find_IDs Find_Terms Annotation
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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
BDPLT6 155100
EPSTNS 155100
FTNS 155100
MATINS 155100
MHA 155100
SBS 155100
MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS 155100
APSM, FORMERLY 155100
EPSTEIN SYNDROME 155100
FECHTNER SYNDROME 155100
MAY-HEGGLIN ANOMALY 155100
SEBASTIAN SYNDROME 155100
MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS 155100
MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS 155100
MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS 155100