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Opitz G/BBB syndrome

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).
Disease Ontology Description A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
Mondo Term and Equivalent IDs
MONDO:0017138:  Opitz G/BBB syndrome
GARD:0000193: 
NCIT:C125487: 
OMIMPS:300000: 
Orphanet:2745: 
SCTID:81771002: 
UMLS:CN202554: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)