OBO ID: DOID:0111272 |
Term Name: | occipital horn syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.