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Echinobase
Summary Literature (0)
DOID:0110989 - Joubert syndrome 20


Disease Ontology Definition:A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.

Synonyms: JBTS20

Echinobase Genes : tmem231


OMIM:
OMIM:614970 - joubert syndrome 20; jbts20

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)