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DO Term : Joubert syndrome 1 [DOID:0110980] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.

synonyms:
OMIM:213300,
213300,
CPD4,
CORS1,
JBTS1,
cerebelloparenchymal disorder IV,
cerebellooculorenal syndrome 1

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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