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Echinobase
Summary Literature (0)
DOID:0110991 - Joubert syndrome 22

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.

Synonyms: JBTS22,

Echinobase Genes : pde6d


OMIM:
MIM:615665 - joubert syndrome 22; jbts22

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)