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DO Term : Joubert syndrome 24 [DOID:0110993] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
616654,
OMIM:616654,
JBTS24

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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