Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111272 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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