loading...| Preferred Name | occipital horn syndrome | |
| Synonyms |
X-linked cutis laxa Ehlers-Danlos syndrome type IX Ehlers-Danlos syndrome type 9 EDS IX |
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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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| database_cross_reference |
UMLS_CUI:C0268353 SNOMEDCT_US_2023_03_01:59399004 ORDO:198 MIM:304150 MESH:C537860 GARD:4017 |
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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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| has exact synonym |
X-linked cutis laxa Ehlers-Danlos syndrome type IX Ehlers-Danlos syndrome type 9 EDS IX |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0111272 |
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| in_subset | ||
| label |
occipital horn syndrome |
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| notation |
DOID:0111272 |
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| prefLabel |
occipital horn syndrome |
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| subClassOf |