ADO, 2-aminoethanethiol dioxygenase, 84890

N. diseases: 41; N. variants: 3
Disease: Bone Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.020 GeneticVariation group BEFREE Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. 26056022 2016
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.020 GeneticVariation group BEFREE Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity. 24336069 2014