Summary Literature (0)

DOID:0111272 - occipital horn syndrome

Disease Ontology 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.

Synonyms: EDS IX, Ehlers-Danlos syndrome type 9, Ehlers-Danlos syndrome type IX, X-linked cutis laxa,

Echinobase Genes :


OMIM:

MIM:304150 - occipital horn syndrome; ohs

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee