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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
Xenbase Genes
:
atp7a
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
metal metabolism disorder (is_a)