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DOID:0080254 - orofaciodigital syndrome XVI
Disease Ontology Definition:An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Synonyms:
Xenbase Genes : tmem107
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee