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Echinobase
Summary Literature (0)
DOID:0111001 - Joubert syndrome 6


Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22.

Synonyms: JBTS6,

Echinobase Genes : tmem67


OMIM:
MIM:610688 - joubert syndrome 6; jbts6

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Joubert syndrome (is_a)