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loading...| Preferred Name |
Crouzon syndrome |
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| Synonyms |
Craniofacial Dysostosis |
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| Definitions |
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 |
UMLS_CUI:C0010273 SNOMEDCT_US_2023_03_01:28861008 ICD10CM:Q75.1 OMIM:123500 MESH:D003394 GARD:6206 NCI:C84653 |
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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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| 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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| id |
DOID:2339 |
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| in_subset | ||
| label |
Crouzon syndrome |
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| notation |
DOID:2339 |
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| prefLabel |
Crouzon syndrome |
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| subClassOf |
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