occipital horn syndrome

Term ID

DOID:0111272

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. (2)

References

• GARD:4017
• MESH:C537860
• OMIM:304150
• ORDO:198
• SNOMEDCT_US_2023_03_01:59399004
• UMLS_CUI:C0268353

Ontology

Human Disease   ( DOID:0111272 )