Joubert syndrome 13

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Summary

Literature (0)

DOID:0110982 - Joubert syndrome 13

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.

Synonyms: JBTS13

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

: tctn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013608 - Joubert syndrome 13

MONDO:0013608 - Joubert syndrome 13

MIM:

MIM:614173 - JOUBERT SYNDROME 13; JBTS13

MIM:614173 - JOUBERT SYNDROME 13; JBTS13

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)