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DO Term : Joubert syndrome 28 [DOID:0110997] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.
  • synonyms:
  • 617121,
  • OMIM:617121,
  • JBTS28
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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