loading...| Preferred Name |
Craniofacial Dysostosis |
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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. A characteristic appearance resulting from defective ossification of craniofacial bones. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00037615 |
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| Database_Cross_Reference |
MEDCIN:312328 MTH:NOCODE NDFRT:N0000000868 AOD:0000023234 SNM:D-5187 AOD:0000004977 ICD10:Q75.1 COSTAR:NOCODE MSH:D003394 CSP:0725-9662 CHV:0000003430 DO:DOID:2339 MTHICD9:756.0 AOD:0000023232 LCH_NW:sh85033750 SNMI:D4-00C05 MDR:10066946 MDR:10066950 RCD:PG04. ICD10CM:Q75.1 NCI_NICHD:C84653 LCH:U001189 ICD10AM:Q75.1 HPO:HP:0004439 NCI:C84653 SNOMEDCT_US:28861008 AOD:0000023235 |
|
| 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. A characteristic appearance resulting from defective ossification of craniofacial bones. |
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| label |
Craniofacial Dysostosis |
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| MCID |
MC00003321 |
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| PMOID |
PMO:00037615 |
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| prefixIRI |
pmo:PMO_00037615 |
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| prefLabel |
Craniofacial Dysostosis |
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| Synonym |
Craniofacial Dysostosis Syndromes Crouzon's syndrome crouzons disease crouzon disease Crouzon's disease (diagnosis) Crouzon syndrome (disorder) Craniofacial Dysarthrosis Dysarthroses, Craniofacial Craniofacial dysostosis syndrome Craniofacial Dysostosis Syndrome crouzons syndrome Crouzon's disease Craniofacial dysostosis craniofacial dysarthrosis syndrome craniofacial dysostosis craniofacial dysostosis Crouzon syndrome Craniofacial Dysostoses Vogt cephalosyndactyly Crouzon''s syndrome Crouzon''s disease (diagnosis) Craniofacial Dysarthroses Crouzon's Disease syndrome crouzon's syndrome crouzon''s Dysostoses, Craniofacial Trigorhinophalangeal dysplasia congenital deformity of head Crouzon''s disease Dysarthrosis, Craniofacial crouzon's disease Apert-Crouzon syndrome Dysostosis, Craniofacial Crouzon Syndrome Craniofacial Dysostosis [Disease/Finding] crouzon syndrome crouzon's syndrome Acrocephalosyndactyly, type II Crouzon disease Craniofacial Dysostosis Crouzon''s Disease congenital deformity of head Crouzon's disease |
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| Tree Number |
T9.8.3.7.8.1 T9.3.9.22.2.1 T9.3.6.8.1 T3.9.2.2.6 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00039944 |