loading...| Preferred Name | occipital horn syndrome | |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111272 |
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| 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. |
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| label |
occipital horn syndrome |
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| prefixIRI |
DOID:0111272 |
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| prefLabel |
occipital horn syndrome |
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