| D008342 |
Mandibulofacial Dysostosis |
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) |
MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes |
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| D008722 |
Methods |
A series of steps taken in order to conduct research. |
Techniques,Methodological Studies,Methodological Study,Procedures,Studies, Methodological,Study, Methodological,Method,Procedure,Technique |
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| D008850 |
Microphthalmos |
Congenital or developmental anomaly in which the eyeballs are abnormally small. |
Microphthalmia |
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| D009915 |
Orbit |
Bony cavity that holds the eyeball and its associated tissues and appendages. |
Eye Socket,Eye Sockets,Orbits,Socket, Eye,Sockets, Eye |
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| D001763 |
Blepharoptosis |
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle. |
Ptosis, Eyelid,Blepharoptoses,Eyelid Ptoses,Eyelid Ptosis,Ptoses, Eyelid |
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| D002648 |
Child |
A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. |
Children |
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| D003103 |
Coloboma |
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. |
Coloboma Of Iris, Choroid, And Retina,Coloboma, Ocular,Coloboma, Uveoretinal,Ocular Coloboma,Uveoretinal Coloboma,Colobomas,Colobomas, Ocular,Colobomas, Uveoretinal,Ocular Colobomas,Uveoretinal Colobomas |
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| D005143 |
Eyelids |
Each of the upper and lower folds of SKIN which cover the EYE when closed. |
Eyelid |
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| D005145 |
Face |
The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. |
Faces |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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