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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C84653
http://purl.obolibrary.org/obo/NCIT_C84653
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|---|---|
| Preferred Name | Craniofacial Dysostosis |
| 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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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Craniofacial Dysostosis
|
| prefLabel |
Craniofacial Dysostosis
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| in_subset | |
| Preferred_Name |
Craniofacial Dysostosis
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| UMLS_CUI |
C0010273
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| prefixIRI |
NCIT:C84653
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| Contributing_Source |
NICHD
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| subClassOf | |
| code |
C84653
|
| type | |
| Semantic_Type |
Disease or Syndrome
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