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Summary Literature (0)
DOID:0110988 - Joubert syndrome 2


Disease Ontology Definition:A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.

Synonyms: CORS2, JBTS2, cerebellooculorenal syndrome 2

Xenbase Genes : tmem216

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011963 - Joubert syndrome 2

OMIM:
OMIM:608091 - JOUBERT SYNDROME 2; JBTS2

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)