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DO Term : Joubert syndrome 5 [DOID:0111000] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
  • synonyms:
  • JBTS5,
  • OMIM:610188,
  • MESH:C537688,
  • 610188
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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