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Disease Ontology Browser
Opitz GBBB syndrome (DOID:0080697)
Alliance: disease page
Synonyms: Opitz G/BBB Syndrome; Opitz GBBB syndrome type I
Alt IDs: OMIM:300000, KEGG:H00583
Definition: 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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory