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DOID:0080698 - Teebi hypertelorism syndrome 1
Disease Ontology Definition:A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.
Synonyms: Opitz GBBB syndrome type II, SPECC1L-related hypertelorism syndrome, Teebi hypertelorism syndrome-1,
Xenbase Genes : specc1l
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee