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DOID:0070076 - Koolen-De Vries syndrome
Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31.
Synonyms: chromosome 17q21.31 deletion syndrome, microdeletion 17q21.31 syndrome,
Echinobase Genes : kansl1
MIM:610443 - koolen-de vries syndrome; kdvs |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee