loading...| Preferred Name |
Crouzon syndrome |
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| Synonyms |
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| Definitions |
A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2339 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| definition |
A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. |
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| hasDbXref |
OMIM:123500 MESH:D003394 ICD10CM:Q75.1 NCI:C84653 UMLS_CUI:C0010273 SNOMEDCT_US_2016_03_01:28861008 |
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| hasExactSynonym |
Craniofacial Dysostosis |
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| hasOBONamespace |
disease_ontology |
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| hasRelatedSynonym |
Crouzon's disease |
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| id |
DOID:2339 |
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| imported from | ||
| label |
Crouzon syndrome |
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| prefixIRI |
DOID:2339 |
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| prefLabel |
Crouzon syndrome |
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| subClassOf |
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