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 a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. (DO)
Synonyms:
exact_synonym:
BBBG1; GBBB syndrome; GBBB1; OGS1; OS; OSX; Opitz BBB-G syndrome; Opitz BBBG syndrome; Opitz BBBG syndrome, type I; Opitz G/BBB syndrome; Opitz GBBB syndrome type I; Opitz GBBB syndrome, X-linked; Opitz Syndrome; Opitz-G syndrome, type I; X-linked Opitz syndrome; X-linked Opitz syndrome (XLOS); hypertelorism with esophageal abnormalities and hypospadias; hypertelorism with esophageal abnormality and hypospadias; hypertelorism-hypospadias sydrome; telecanthus-hypospadias syndrome
CTD Direct Evidence: marker/mechanism OMIM:300000 ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I