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Summary Literature (0)
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
Parent(s): autosomal recessive disease (is_a), orofaciodigital syndrome (is_a)