RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. (DO)
Synonyms:
exact_synonym:
Craniofacial Microsomia; FAV SEQUENCE; Facioauriculovertebral Dysplasia; Facioauriculovertebral Sequence; Facioauriculovertebral Sequences; First and Second Branchial Arch Syndrome; First and Second Pharyngeal Arch Syndromes; Goldenhar Disease; Goldenhar Gorlin Syndrome; Goldenhar Syndrome with Ipsilateral Radial Defect; Goldenhar-Gorlin Syndromes; HFM; Hemifacial Microsomia; Hemifacial Microsomia with Radial Defects; Lateral Facial Dysplasia; Lateral Facial Dysplasias; Microsomia Hemifacial Radial Defects; Moeschler Clarren Syndrome; OAV (oculoauriculovertebral) dysplasia; OAV DYSPLASIA; OAVS; OAVS with Radial Defect; Oculoauriculovertebral Dysplasia; Oculoauriculovertebral Dysplasias; Oculoauriculovertebral Spectrum; Oculoauriculovertebral Spectrum with Radial Defect; Oculoauriculovertebral Spectrums; Oculoauriculovertebral Syndrome; Oral Mandibular Auricular Syndrome; Oral-Mandibular-Auricular Syndromes; craniofacial microsomias; facio-auriculo-vertebral spectrum; facioauriculovertebral dysplasias; first arch syndrome; otomandibular dysostoses; otomandibular dysostosis