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X-linked Opitz G/BBB syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description X-linked form of Opitz G/BBB syndrome.
Uniprot Description 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.
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:300000
Orphanet:306597
MONDO:0010222
High level summary of knowledge for a disease, including descriptions and datasource references.