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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | occipital horn syndrome | |
| Synonyms |
Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX EDS IX X-linked cutis laxa |
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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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| Obsolete |
true |
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| alternative label |
Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX EDS IX X-linked cutis laxa
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| database_cross_reference |
OMIM:304150 UMLS_CUI:C0268353 MESH:C537860 SNOMEDCT_US_2023_03_01:59399004 GARD:4017 ORDO:198
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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 |
Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX EDS IX X-linked cutis laxa
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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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|
| note |
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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|
| owl:deprecated |
true
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|
| preferred label |
occipital horn syndrome
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|
| prefLabel |
occipital horn syndrome
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| subClassOf |
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