Biomaterial Database

Oculoauriculovertebral dysplasia. 1988

H H Ardingen, and A E Lin

UI	MeSH Term	Description	Entries
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
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D006053	Goldenhar Syndrome	Mandibulofacial dysostosis with congenital eyelid dermoids.	Hemifacial Microsomia,Oculoauriculovertebral Syndrome,Craniofacial Microsomia,Facioauriculovertebral Dysplasia,Facioauriculovertebral Sequence,First and Second Branchial Arch Syndrome,First and Second Pharyngeal Arch Syndromes,Goldenhar Disease,Goldenhar Syndrome with Ipsilateral Radial Defect,Goldenhar-Gorlin Syndrome,Hemifacial Microsomia with Radial Defects,Lateral Facial Dysplasia,Microsomia Hemifacial Radial Defects,Moeschler Clarren Syndrome,OAVS with Radial Defect,Oculoauriculovertebral Dysplasia,Oculoauriculovertebral Spectrum,Oculoauriculovertebral Spectrum with Radial Defect,Oral-Mandibular-Auricular Syndrome,Otomandibular Dysostosis,Craniofacial Microsomias,Dysostosis, Otomandibular,Dysplasia, Facioauriculovertebral,Dysplasia, Lateral Facial,Dysplasia, Oculoauriculovertebral,Dysplasias, Facioauriculovertebral,Dysplasias, Lateral Facial,Dysplasias, Oculoauriculovertebral,Facial Dysplasia, Lateral,Facial Dysplasias, Lateral,Facioauriculovertebral Dysplasias,Facioauriculovertebral Sequences,Goldenhar Gorlin Syndrome,Goldenhar-Gorlin Syndromes,Lateral Facial Dysplasias,Microsomia, Craniofacial,Microsomias, Craniofacial,Oculoauriculovertebral Dysplasias,Oculoauriculovertebral Spectrums,Oral Mandibular Auricular Syndrome,Oral-Mandibular-Auricular Syndromes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014644	Genetic Variation	Genotypic differences observed among individuals in a population.	Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic