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DO Term : Joubert syndrome 22 [DOID:0110991] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.

synonyms:
615665,
OMIM:615665,
JBTS22

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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