Disease-gene associations mined from literature

Human genes for occipital horn syndrome

Occipital horn syndrome [DOID:0111272]

A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.

Synonyms:  occipital horn syndrome,  DOID:0111272,  occipital horn disease,  occipital horn disorder,  occipital horn syndromes ...