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loading...| Preferred Name |
Craniofacial Dysostosis |
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| Synonyms |
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| Definitions |
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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| ID |
http://purl.obolibrary.org/obo/NCIT_C84653 |
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| code |
C84653 |
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| Contributing_Source |
NICHD |
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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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| in_subset | ||
| label |
Craniofacial Dysostosis |
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| Preferred_Name |
Craniofacial Dysostosis |
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| prefixIRI |
NCIT:C84653 |
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| prefLabel |
Craniofacial Dysostosis |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0010273 |
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| subClassOf |
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