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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| Preferred Name | Crouzon syndrome | |
| Synonyms |
Crouzon's disease Craniofacial Dysostosis |
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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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| database_cross_reference |
GARD:6206 OMIM:123500 MESH:D003394 ICD10CM:Q75.1 NCI:C84653 UMLS_CUI:C0010273 SNOMEDCT_US_2021_09_01:28861008
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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. OMIM mapping confirmed by DO. [SN].
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| has_exact_synonym |
Craniofacial Dysostosis
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| has_obo_namespace |
disease_ontology
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| has_related_synonym |
Crouzon's disease
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| IAO_0000115 |
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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|
| id |
DOID:2339
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| in_subset | ||
| label |
Crouzon syndrome
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|
| notation |
DOID:2339
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|
| note |
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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| prefLabel |
Crouzon syndrome
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| subClassOf |
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