Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis
0.010 GeneticVariation disease BEFREE We report a patient who was heterozygous for the RIM1 mutation with bilateral CMO and who manifested a retinitis pigmentosa phenotype. 27176872 2017