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DO Term : Joubert syndrome 26 [DOID:0110995] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.

synonyms:
JBTS26,
616784,
OMIM:616784

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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