Joubert syndrome 25

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Summary

Literature (0)

DOID:0110994 - Joubert syndrome 25

Disease Ontology Definition:A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.

Synonyms: JBTS25,

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

: cep104

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014770 - Joubert syndrome 25

MONDO:0014770 - Joubert syndrome 25

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)