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Disease Ontology Browser
orofaciodigital syndrome IV (DOID:0060374)
Alliance: disease page
Synonyms: Baraitser-Burn syndrome; OFD4
Alt IDs: OMIM:258860, MESH:C537133, ORDO:2753, UMLS_CUI:C0406727
Definition: An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.

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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