Term Name: | occipital horn syndrome |
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Synonyms: | EDS IX, Ehlers-Danlos syndrome type 9, Ehlers-Danlos syndrome type IX, OHS, X-linked cutis laxa |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111272] ( DOID:0111272 ) |