loading...| Preferred Name |
Mandibulofacial Dysostosis |
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| Synonyms |
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| Definitions |
A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00037617 |
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| Database_Cross_Reference |
MSH:D008342 NDFRT:N0000001939 NCI:C75018 MTH:NOCODE SNOMEDCT_US:82203000 MDR:10044554 SNM:D-5113 MDR:10051456 OMIM:606847 RCD:XE2ud MDR:10051464 JABL:414 HPO:HP:0005321 DO:DOID:2908 NCI_NICHD:C75018 OMIM:154500 MEDCIN:312443 SNMI:D4-00722 SNOMEDCT_US:205416009 SNOMEDCT_US:205804007 MEDLINEPLUS:5757 ICD10:Q75.4 ICD10CM:Q75.4 ICD10AM:Q75.4 CHV:0000024804 |
|
| Definition |
A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. |
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| label |
Mandibulofacial Dysostosis |
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| MCID |
MC00081613 |
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| PMOID |
PMO:00037617 |
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| prefixIRI |
pmo:PMO_00037617 |
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| prefLabel |
Mandibulofacial Dysostosis |
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| Synonym |
Franceschetti-Zwahlen-Klein Syndrome Treacher Collins Syndrome MFD1 TCOF Treacher-Collins' syndrome Franceschetti syndrome Treacher Collins-Franceschetti (TCF) syndrome Zwahlen syndrome berry syndrome TREACHER COLLINS-FRANCESCHETTI SYNDROME collins syndrome treacher (Mandibulofacial dysostosis) or (Franceschetti syndrome) Dysostosis, Mandibulofacial Mandibulofacial Dysostoses Franceschetti''s syndrome Franceschetti-Zwahlen syndrome TCS Mandibulofacial dysostosis Thomson complex (Mandibulofacial dysostosis) or (Franceschetti syndrome) (disorder) Treacher - Collins syndrome Syndrome, Treacher Collins syndrome treacher collin treacher collins syndrome dysostosis mandibulofacialis treacher collins' syndrome Berry syndrome Treacher-Collins'' syndrome Treacher Collins syndrome Franceschetti's syndrome syndrome treacher collins Treacher-Collins Syndrome TREACHER COLLINS SYNDROME 1 Treacher Collins syndrome (TCS) TCS1 Collins Syndrome, Treacher mandibulofacial dysostosis (MFD) mandibulofacial syndrome Treacher Collins-Franceschetti Syndrome Mandibulofacial Dysostosis [Disease/Finding] Treacher collins syndrome Mandibulofacial Dysostosis collins syndrome treachers bilateral facial agenesis mandibulofacial dysostosis Treacher Collins'' syndrome Berry-Treacher Collins syndrome Franceschetti-Zwahlen-Klein syndrome MANDIBULOFACIAL DYSOSTOSIS TREACHER COLLINS SYNDROME treacher collin syndrome Dysostoses, Mandibulofacial Treacher Collins syndrome (disorder) Treacher Collins' syndrome Mandibulofacial Dysostosis (MFD1) Treacher Collins-Franceschetti syndrome mandibulofacial dysostosis (diagnosis) |
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| Tree Number |
T3.9.2.2.6.2 T9.3.6.8.1.3 T9.8.3.7.8.1.3 T9.3.9.22.2.1.3 |
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| subClassOf |