Joubert syndrome 4

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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

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

: nphp1, tmem237, rpgrip1l

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012308 - Joubert syndrome with renal defect

MONDO:0012308 - Joubert syndrome with renal defect

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)