loading...| Preferred Name |
Polyostotic Fibrous Dysplasia |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Polyostotic_Fibrous_Dysplasia_of_Bone |
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| DEFINITION |
A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation. |
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| FULL_SYN |
Polyostotic Fibrous Dysplasia of Bone |
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| isDefinedBy |
A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation. |
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| label |
Polyostotic Fibrous Dysplasia |
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| prefixIRI |
Thesaurus:Polyostotic_Fibrous_Dysplasia_of_Bone |
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| prefLabel |
Polyostotic Fibrous Dysplasia |
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| Synonym |
Polyostotic Fibrous Dysplasia of Bone |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fibrous_Dysplasia_of_Bone |