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Disease Ontology Browser
Temtamy syndrome (DOID:0111621)
Alliance: disease page
Synonyms: craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; dysmorphism, corpus callosum agenesis and colobomas; Temtamy-Shalash syndrome
Alt IDs: OMIM:218340, MESH:C536959, NCI:C148371, ORDO:1777, UMLS_CUI:C1857512
Definition: A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.

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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory