Term Name: occipital horn syndrome
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 )

Relationships
is a type of: metal metabolism disorder X-linked recessive disease