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Summary Literature (0)
DOID:0110997 - Joubert syndrome 28

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.

Synonyms: JBTS28

Xenbase Genes : mks1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014928 - Joubert syndrome 28


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)