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Human Disease and Mouse Model Detail
Human Disease Opitz Gbbb Syndrome, Type II; GBBB2
OMIM ID: 145410
Synonyms BBB Syndrome; Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype; G Syndrome; GBBB Syndrome; Hypertelorism with Esophageal Abnormality and Hypospadias; Hypertelorism-Hypospadias Syndrome; Hypospadias-Dysphagia Syndrome; Opitz Bbbg Syndrome; Opitz GBBB Syndrome; Opitz Gbbb Syndrome, Autosomal Dominant; Opitz Oculogenitolaryngeal Syndrome, Type II; Opitz-Frias Syndrome; Opitz-G Syndrome, Type II; OGS2; Telecanthus with Associated Abnormalities; Telecanthus-Hypospadias Syndrome
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     SPECC1L* Specc1l   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.0
The Jackson Laboratory