Preferred Name | Muenke Syndrome | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Muenke_Syndrome |
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DEFINITION |
A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes. |
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label |
Muenke Syndrome |
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prefixIRI |
Thesaurus:Muenke_Syndrome |
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prefLabel |
Muenke Syndrome |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
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