loading...| Preferred Name |
Craniofacial Dysostosis |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Craniofacial_Dysostosis |
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| DEFINITION |
A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. |
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| FULL_SYN |
Crouzon Syndrome |
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| isDefinedBy |
A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. |
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| label |
Craniofacial Dysostosis |
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| prefixIRI |
Thesaurus:Craniofacial_Dysostosis |
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| prefLabel |
Craniofacial Dysostosis |
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| Synonym |
Crouzon Syndrome |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Dysostosis http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |