Joubert syndrome 20

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Summary

Literature (0)

DOID:0110989 - Joubert syndrome 20

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.

Synonyms: JBTS20,

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

: tmem231

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013994 - Joubert syndrome 20

MONDO:0013994 - Joubert syndrome 20

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)