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loading...| Preferred Name |
Craniofacial Dysostosis |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84653 |
| code |
C84653 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| 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. |
| FULL_SYN |
Craniofacial Dysostosis Crouzon Syndrome |
| label |
Craniofacial Dysostosis |
| Preferred_Name |
Craniofacial Dysostosis |
| prefixIRI |
Thesaurus:C84653 |
| prefLabel |
Craniofacial Dysostosis |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0010273 |
| subClassOf |
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