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DOID:0110993 - Joubert syndrome 24
Disease Ontology Definition:A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.
Synonyms: JBTS24
Xenbase Genes : tctn2
MONDO:0014724 - Joubert syndrome 24 |
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)