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Disease Ontology Browser
occipital horn syndrome (DOID:0111272)
Alliance: disease page
Synonyms: EDS IX; Ehlers-Danlos syndrome type 9; Ehlers-Danlos syndrome type IX; X-linked cutis laxa
Alt IDs: OMIM:304150, MESH:C537860, ORDO:198, UMLS_CUI:C0268353
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory