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DOID:0110995 - Joubert syndrome 26
Disease Ontology Definition:A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.
Synonyms: JBTS26
Echinobase Genes

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Joubert syndrome (is_a)