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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Joubert syndrome +     
Joubert syndrome 1  
Joubert syndrome 10  
Joubert Syndrome 12  
Joubert Syndrome 13  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 16  
Joubert Syndrome 17  
Joubert Syndrome 18  
Joubert Syndrome 2  
Joubert syndrome 20  
Joubert syndrome 21  
Joubert syndrome 22  
Joubert syndrome 23  
Joubert syndrome 24  
A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. (DO)
Joubert syndrome 25  
Joubert Syndrome 26  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 29 
Joubert syndrome 3  
Joubert syndrome 30  
Joubert syndrome 31  
Joubert syndrome 32  
Joubert syndrome 33  
JOUBERT SYNDROME 35  
Joubert Syndrome 36  
Joubert Syndrome 37  
Joubert Syndrome 38  
Joubert Syndrome 39  
Joubert syndrome 4  
Joubert Syndrome 40  
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 7  
Joubert syndrome 8  
Joubert syndrome 9  
Joubert syndrome with orofaciodigital defect  
Meckel Syndrome 10  
nephronophthisis 12  
nephronophthisis 14  

Synonyms
Exact Synonyms: JBTS24
Broad Synonyms: TCTN2-RELATED DISORDER ;   TCTN2-RELATED DISORDERS
Primary IDs: OMIM:616654
Alternate IDs: RDO:9000414
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/21565611 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25118024 "DO" "DO"

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