Joubert syndrome 27

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Summary

Literature (0)

DOID:0110996 - Joubert syndrome 27

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.

Synonyms: JBTS27

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

: b9d1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014927 - Joubert syndrome 27

MONDO:0014927 - Joubert syndrome 27

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)