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Summary Literature (0)
DOID:0110999 - Joubert syndrome 4


Disease Ontology Definition:A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.

Synonyms: JBTS4

In OMIM:
OMIM:609583 - JOUBERT SYNDROME 4; JBTS4

In Mondo Disease Ontology:
MONDO:0012308 - Joubert syndrome with renal defect

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : nphp1, tmem237, rpgrip1l

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Joubert syndrome (is_a)