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DO Term : Joubert syndrome 4 [DOID:0110999] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.
  • synonyms:
  • OMIM:609583,
  • JBTS4,
  • MESH:C536296,
  • 609583,
  • GARD:10169
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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