Joubert syndrome 16

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Summary

Literature (0)

DOID:0110985 - Joubert syndrome 16

Disease Ontology Definition:A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.

Synonyms: JBTS16

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

: tmem138

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013764 - Joubert syndrome 16

MONDO:0013764 - Joubert syndrome 16

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)