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DO Term : occipital horn syndrome [DOID:0111272] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • ORDO:198,
  • Ehlers-Danlos syndrome type IX,
  • X-linked cutis laxa,
  • UMLS_CUI:C0268353,
  • MESH:C537860,
  • SNOMEDCT_US_2023_03_01:59399004,
  • GARD:4017,
  • OMIM:304150,
  • 304150,
  • EDS IX,
  • Ehlers-Danlos syndrome type 9
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