Joubert syndrome 22

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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

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

: pde6d

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014297 - Joubert syndrome 22

MONDO:0014297 - Joubert syndrome 22

MIM:

MIM:615665 - JOUBERT SYNDROME 22; JBTS22

MIM:615665 - JOUBERT SYNDROME 22; JBTS22

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): Joubert syndrome (is_a)