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DO Term : Joubert syndrome 27 [DOID:0110996] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.
  • synonyms:
  • 617120,
  • JBTS27,
  • OMIM:617120
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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