Crouzon syndrome
Information
- Disease name
- Crouzon syndrome
- Disease ID
- DOID:2339
- Description
- "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." [url:http\://en.wikipedia.org/wiki/Crouzon_syndrome, url:http\://ghr.nlm.nih.gov/condition/crouzon-syndrome, url:http\://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm, url:https\://www.faces-cranio.org/crouzon]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes | Mutation | Description | Source | Links |
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- Disase is a (Disease Ontology)
- DOID:2340
- Cross Reference ID (Disease Ontology)
- GARD:6206
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q75.1
- Cross Reference ID (Disease Ontology)
- MESH:D003394
- Cross Reference ID (Disease Ontology)
- MIM:123500
- Cross Reference ID (Disease Ontology)
- NCI:C84653
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:28861008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0010273
- Exact Synonym (Disease Ontology)
- Craniofacial Dysostosis
- Disase Synonym (Disease Ontology)
- Crouzon's disease