Joubert syndrome 2

Summary

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: cerebellooculorenal syndrome 2, CORS2, JBTS2

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

: tmem216

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011963 - Joubert syndrome 2

MONDO:0011963 - Joubert syndrome 2

MIM:

MIM:608091 - JOUBERT SYNDROME 2; JBTS2

MIM:608091 - JOUBERT SYNDROME 2; JBTS2

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)