Preferred Name | stiff skin syndrome | |
Synonyms |
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Definitions |
A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1. |
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ID |
http://purl.obolibrary.org/obo/DOID_0111561 |
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definition |
A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1. |
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imported from | ||
label |
stiff skin syndrome |
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prefixIRI |
DOID:0111561 |
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prefLabel |
stiff skin syndrome |
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subClassOf |
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