OBO ID: DOID:0111272
Term Name: occipital horn syndrome Search Ontology:
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)
OTHER occipital horn syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP7A Occipital horn syndrome 304150
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None