|  Help  |  About  |  Contact Us

DO Term : Joubert syndrome 15 [DOID:0110984] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.
  • synonyms:
  • JBTS15,
  • OMIM:614464,
  • 614464
Quick Links:
 
Quick Links:
 

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