You are using an outdated browser. Please upgrade your browser to improve your experience.
autosomal dominant Opitz G/BBB syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Autosomal dominant form of Opitz G/BBB syndrome.
Uniprot Description A form of Opitz GBBB syndrome, a congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects.
Download Data for autosomal dominant Opitz G/BBB syndrome
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:145410
Orphanet:306588
MONDO:0007779
High level summary of knowledge for a disease, including descriptions and datasource references.