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Disease Ontology Browser
orofaciodigital syndrome IX (DOID:0060382)
Alliance: disease page
Synonyms: OFD9; orofaciodigital syndrome with retinal abnormalities
Alt IDs: OMIM:258865, MESH:C557818, ORDO:141007, UMLS_CUI:C0796102
Definition: An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.

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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
11/12/2024
MGI 6.24 		The Jackson Laboratory