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Disease Ontology Browser
Opitz-GBBB syndrome (DOID:0050780)
Alliance: disease page
Synonyms: Opitz G/BBB Syndrome
Alt IDs: OMIM:145410, OMIM:300000, KEGG:H00583
Definition: 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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory