Joubert syndrome 6

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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 gene on chromosome 8q22.

Synonyms: JBTS6

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tmem67

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012539 - Joubert syndrome 6

MONDO:0012539 - Joubert syndrome 6

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)