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loading...| Preferred Name |
Muenke Syndrome |
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| Synonyms |
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| Definitions |
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060703 |
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| definition |
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. |
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| label |
Muenke Syndrome |
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| prefixIRI |
DOID:0060703 |
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| prefLabel |
Muenke Syndrome |
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| subClassOf |
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